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Mutations in mtDNA D-loop region of mtDNA in various tissues of Papuan individuals | Abstract
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Abstract

Mutations in mtDNA D-loop region of mtDNA in various tissues of Papuan individuals

Author(s): Johnson Siallagan, Agnes Maryuni, Jukwati, Rosye H. R. Tanjung and Yohanis Ngili

High mutation rate of mtDNA causes the difference in the nucleotide sequence of mtDNA between individual (high degree of polymorphism). At the mtDNA there are areas that do not encode controller (noncoding region), which is known by the local displacement loop (D-loop), which has two areas with high variations which hypervariable region I (HVR1) and hypervariable region II (HVR2). But there is no information on whether the nucleotide sequence of mtDNA D-loop is the same for the different cells in certain individuals. The purpose of this study to obtain nucleotide sequence information area mtDNA D-loop different cells on each individual to five individuals with different ages. Stages of research performed includes preparation of template mtDNA by way of cell lysis. Amplification fragments of mtDNA D-loop with the method of Polymerase Chain Reaction (PCR) using the primers M1 and HV2R. Analysis of the results of PCR with the aid of agarose gel electrophoresis using standard pUC19 which is cut by the restriction enzyme HinfI (pUC19/HinfI). The results of the analysis of nucleotide sequences using DNASTAR seqman program with rCRS as references show that for three different cells, ie blood cells, epithelial cells, and hair cells, in individuals in individuals Papua, position and type of mutation of each individual are the same or homology. Meanwhile, nucleotide sequence analysis of blood cells and hair cells of individuals with different ages also shows the position and type of the same mutation. Thus, the nucleotide sequence of mtDNA Dloop in different cells are blood cells, epithelial, and each individual hair to show the same mutation. This is because the cells are derived from a single egg that has one type of mtDNA then differentiated in line with the development of the embryo. In the next phase of development into an adult human, this differentiation does not lead to any changes in the nucleotide sequence of mtDNA in blood cells, epithelial, and hair in a single individual. Thus, all three cell types can be said to represent the whole cell types that exist in the human body. Hopefully, the results of this study can be useful to facilitate the identification process in the field of forensics.